先天性巨结肠与RET基因的相关研究进展
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摘要
RET原癌基因编码酪氨酸激酶受体,在细胞的增殖分化和迁移过程中发挥重要作用。先天性巨结肠(hirschsprung disease,HSCR)是由于肠神经嵴细胞(enteric neural crest cells,ENCCs)在肠道内的移行、种植过程中发生异常,致使远端肠道缺乏神经节细胞,是最常见的先天性小儿消化道畸形。研究证实RET原癌基因为主要易感基因。本文就近年来RET基因与HSCR发生、发展关系的国内外研究进行综述。
引文
1 Grey W,Hulse R,Yakovleva A,et al. The RET E616Q variant is a gain of function mutation present in a family with features of multiple endocrine neoplasia 2A[J]. Endocr Pathol,2017,28(1):41-48
2 Sergi CM,Caluseriu O,Mc Coll H,et al. Hirschsprung's disease:clinical dysmorphology,genes,micro-RNAs,and future perspectives[J]. Pediatr Res,2017,81(1-2):177-191
3 Pan ZW,Li JC. Advances in molecular genetics of hirschsprung's disease[J]. Anatomical Record Advances in Integrative Anatomy and Evolutionary Biology,2012,295(10):1628-1638
4 Bahrami A,Joodi M,Moetamani-Ahmadi M,et al. Genetic background of Hirschsprung disease:a bridge between basic science and clinical application[J]. J Cell Biochem,2017,119(1):28-33
5 Mc Keown SJ,Stamp L,Hao MM,et al. Hirschsprung disease:a developmental disorder of the enteric nervous system[J]. Wiley Interdiscip Rev Dev Biol,2013,2(1):113-129
6 Chatterjee S,Kapoor A,Akiyama JA,et al. Enhancer variants synergistically drive dysfunction of a gene regulatory network in Hirschsprung disease[J]. Cell,2016,167(2):355-368
7 Zhang JR. Zhang ZB. Syndromic Hirschsprung's disease and its mode of inheritance[J]. Chin J Contemp Pediatr,2018,20(5):428-432
8 Henderson D,Zimmer J,Nakamura H,et al. Hirschsprung's disease in twins:a systematic review and meta-analysis[J]. Pediatr Surg Int,2017,33(8):855-859
9 Zhao J,Xie X,Yao Y,et al. Association of VAMP5 and MCC genetic polymorphisms with increased risk of Hirschsprung disease susceptibility in Southern Chinese children[J]. Aging(Albany NY),2018,10(4):689-700
10 Gui H,Schriemer D,Cheng WW,et al. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes[J]. Genome Biol,2017,18(1):48-60
11 Jiang Q,Liu F,Miao C,et al. RET somatic mutations are underrecognized in Hirschsprung disease[J]. Genet Med,2018,20(7):770-777
12 Lof Granstrom A,Svenningsson A,Hagel E,et al. Maternal risk factors and perinatal characteristics for hirschsprung disease[J]. Pediatrics,2016,138(1):e20154608
13 Lai FP,Lau ST,Wong JK,et al. Correction of hirschsprung-associated mutations in human induced pluripotent stem cells via clustered regularly interspaced short palindromic repeats/Cas9,restores neural crest cell function[J]. Gastroenterology,2017,153(1):139-153
14 Widowati T,Melhem S,Patria SY,et al. RET and EDNRB mutation screening in patients with Hirschsprung disease:functional studies and its implications for genetic counseling[J]. Eur J Hum Genet,2015,24(6):823-829
15 Li S,Wang S,Guo Z,et al. miRNA profiling reveals dysregulation of RET and RET-regulating pathways in Hirschsprung's disease[J].PLo S One,2016,11(3):e0150222
16 Tang CS,Gui H,Kapoor A,et al. Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease[J]. Hum Mol Genet,2016,25(23):5265-5275
17 Uesaka T,Nagashimada M,Yonemura S,et al. Diminished Ret expression compromises neuronal survival in the colon and causes intestinal aganglionosis in mice[J]. J Clin Invest,2008,118(5):1890-1898
18 Garcia-BarcelóMM,Sham MH,Lui VC,et al. Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype[J]. J Med Genet,2003,40(11):e122
19 Cornes BK,Tang CS,Leon TY,et al. Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population[J]. PLo S One,2010,5(6):e10918
20 Sribudiani Y,Chauhan RK,Alves MM,et al. Identification of variants in RET and IHH pathway members in a large family with history of Hirschsprung disease[J]. Gastroenterology,2018,155(1):118-129
21 Torroglosa A,Alves MM,Fernandez RM,et al. Epigenetics in ENS development and Hirschsprung disease[J]. Dev Biol,2016,417(2):209-216
22 Wallace AS,Schmidt C,Schachner M,et al. L1cam acts as a modifier gene during enteric nervous system development[J]. Neurobiol Dis,2010,40(3):622-633
23 Di Zanni E,Adamo A,Belligni E,et al. Common PHOX2B poly-alanine contractions impair RET gene transcription,predisposing to Hirschsprung disease[J]. Biochim Biophys Acta,2017,1863(7):1770-1777
2 Sergi CM,Caluseriu O,Mc Coll H,et al. Hirschsprung's disease:clinical dysmorphology,genes,micro-RNAs,and future perspectives[J]. Pediatr Res,2017,81(1-2):177-191
3 Pan ZW,Li JC. Advances in molecular genetics of hirschsprung's disease[J]. Anatomical Record Advances in Integrative Anatomy and Evolutionary Biology,2012,295(10):1628-1638
4 Bahrami A,Joodi M,Moetamani-Ahmadi M,et al. Genetic background of Hirschsprung disease:a bridge between basic science and clinical application[J]. J Cell Biochem,2017,119(1):28-33
5 Mc Keown SJ,Stamp L,Hao MM,et al. Hirschsprung disease:a developmental disorder of the enteric nervous system[J]. Wiley Interdiscip Rev Dev Biol,2013,2(1):113-129
6 Chatterjee S,Kapoor A,Akiyama JA,et al. Enhancer variants synergistically drive dysfunction of a gene regulatory network in Hirschsprung disease[J]. Cell,2016,167(2):355-368
7 Zhang JR. Zhang ZB. Syndromic Hirschsprung's disease and its mode of inheritance[J]. Chin J Contemp Pediatr,2018,20(5):428-432
8 Henderson D,Zimmer J,Nakamura H,et al. Hirschsprung's disease in twins:a systematic review and meta-analysis[J]. Pediatr Surg Int,2017,33(8):855-859
9 Zhao J,Xie X,Yao Y,et al. Association of VAMP5 and MCC genetic polymorphisms with increased risk of Hirschsprung disease susceptibility in Southern Chinese children[J]. Aging(Albany NY),2018,10(4):689-700
10 Gui H,Schriemer D,Cheng WW,et al. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes[J]. Genome Biol,2017,18(1):48-60
11 Jiang Q,Liu F,Miao C,et al. RET somatic mutations are underrecognized in Hirschsprung disease[J]. Genet Med,2018,20(7):770-777
12 Lof Granstrom A,Svenningsson A,Hagel E,et al. Maternal risk factors and perinatal characteristics for hirschsprung disease[J]. Pediatrics,2016,138(1):e20154608
13 Lai FP,Lau ST,Wong JK,et al. Correction of hirschsprung-associated mutations in human induced pluripotent stem cells via clustered regularly interspaced short palindromic repeats/Cas9,restores neural crest cell function[J]. Gastroenterology,2017,153(1):139-153
14 Widowati T,Melhem S,Patria SY,et al. RET and EDNRB mutation screening in patients with Hirschsprung disease:functional studies and its implications for genetic counseling[J]. Eur J Hum Genet,2015,24(6):823-829
15 Li S,Wang S,Guo Z,et al. miRNA profiling reveals dysregulation of RET and RET-regulating pathways in Hirschsprung's disease[J].PLo S One,2016,11(3):e0150222
16 Tang CS,Gui H,Kapoor A,et al. Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease[J]. Hum Mol Genet,2016,25(23):5265-5275
17 Uesaka T,Nagashimada M,Yonemura S,et al. Diminished Ret expression compromises neuronal survival in the colon and causes intestinal aganglionosis in mice[J]. J Clin Invest,2008,118(5):1890-1898
18 Garcia-BarcelóMM,Sham MH,Lui VC,et al. Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype[J]. J Med Genet,2003,40(11):e122
19 Cornes BK,Tang CS,Leon TY,et al. Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population[J]. PLo S One,2010,5(6):e10918
20 Sribudiani Y,Chauhan RK,Alves MM,et al. Identification of variants in RET and IHH pathway members in a large family with history of Hirschsprung disease[J]. Gastroenterology,2018,155(1):118-129
21 Torroglosa A,Alves MM,Fernandez RM,et al. Epigenetics in ENS development and Hirschsprung disease[J]. Dev Biol,2016,417(2):209-216
22 Wallace AS,Schmidt C,Schachner M,et al. L1cam acts as a modifier gene during enteric nervous system development[J]. Neurobiol Dis,2010,40(3):622-633
23 Di Zanni E,Adamo A,Belligni E,et al. Common PHOX2B poly-alanine contractions impair RET gene transcription,predisposing to Hirschsprung disease[J]. Biochim Biophys Acta,2017,1863(7):1770-1777